Unique variants in gene GPHN

Information The variants shown are described using the NM_020806.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 2 - c.26C>G likely benign r.(?) p.(Thr9Ser) g.66975271C>G - GPHN(NM_020806.4):c.26C>G (p.T9S) - GPHN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.86A>G VUS r.(?) p.(Asn29Ser) g.67147846A>G - GPHN(NM_020806.4):c.86A>G (p.N29S) - GPHN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.127G>T likely benign r.(?) p.(Val43Leu) g.67147887G>T - GPHN(NM_020806.4):c.127G>T (p.V43L) - GPHN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.143+27988G>A benign r.(=) p.(=) g.67175891G>A - GPHN(NM_020806.4):c.143+27988G>A - GPHN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.144-147T>C likely benign r.(=) p.(=) g.67243035T>C - GPHN(NM_020806.4):c.144-147T>C - GPHN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.202-78A>G likely benign r.(=) p.(=) g.67291114A>G - GPHN(NM_020806.4):c.202-78A>G - GPHN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.202-2A>G pathogenic r.spl? p.? g.67291190A>G - GPHN(NM_020806.4):c.202-2A>G - GPHN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.271G>A VUS r.(?) p.(Ala91Thr) g.67291261G>A - GPHN(NM_020806.4):c.271G>A (p.A91T) - GPHN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.390-5T>C likely benign r.spl? p.? g.67382715T>C - GPHN(NM_020806.4):c.390-5T>C - GPHN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.457-109T>C likely benign r.(=) p.(=) g.67389274T>C - GPHN(NM_020806.4):c.457-109T>C - GPHN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.633A>G likely benign r.(?) p.(=) g.67389559A>G - GPHN(NM_020806.4):c.633A>G (p.Q211=) - GPHN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.729+69dup benign r.(=) p.(=) g.67389724dup - GPHN(NM_020806.4):c.729+69dupT - GPHN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.730-45G>A likely benign r.(=) p.(=) g.67390866G>A - GPHN(NM_020806.4):c.730-45G>A - GPHN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.751C>T likely benign r.(?) p.(Pro251Ser) g.67390932C>T - GPHN(NM_020806.4):c.751C>T (p.P251S) - GPHN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.800A>G likely benign r.(?) p.(Asn267Ser) g.67390981A>G - GPHN(NM_020806.4):c.800A>G (p.N267S) - GPHN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
-/. 1 - c.963+10G>A benign r.(=) p.(=) g.67432052G>A - GPHN(NM_020806.4):c.963+10G>A - GPHN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.963+164A>G likely benign r.(=) p.(=) g.67432206A>G - GPHN(NM_020806.4):c.963+164A>G - GPHN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.963+20437dup likely benign r.(=) p.(=) g.67452479dup - GPHN(NM_020806.4):c.963+20437dupT - GPHN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.963+20575del benign r.(=) p.(=) g.67452617del - GPHN(NM_020806.4):c.963+20575delT - GPHN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.964-34A>G likely benign r.(=) p.(=) g.67490316A>G - GPHN(NM_020806.4):c.964-34A>G - GPHN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1142G>A VUS r.(?) p.(Arg381Gln) g.67525501G>A - GPHN(NM_020806.4):c.1142G>A (p.R381Q) - GPHN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1238-31T>C likely benign r.(=) p.(=) g.67567542T>C - GPHN(NM_020806.4):c.1238-31T>C - GPHN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1293+16del likely benign r.(=) p.(=) g.67567644del - GPHN(NM_020806.4):c.1293+16delC - GPHN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1293+180T>C likely benign r.(=) p.(=) g.67567808T>C - GPHN(NM_020806.4):c.1293+180T>C - GPHN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1294-187C>T likely benign r.(=) p.(=) g.67576670C>T - GPHN(NM_020806.4):c.1294-187C>T - GPHN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1388C>G VUS r.(?) p.(Thr463Ser) g.67576951C>G - GPHN(NM_001024218.1):c.1289C>G (p.(Thr430Ser)) - GPHN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1414-15C>T likely benign r.(=) p.(=) g.67578563C>T - GPHN(NM_020806.4):c.1414-15C>T - GPHN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1576G>A VUS r.(?) p.(Val526Ile) g.67579838G>A - GPHN(NM_001024218.1):c.1477G>A (p.(Val493Ile)) - GPHN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1627-63T>C likely benign r.(=) p.(=) g.67588910T>C - GPHN(NM_020806.4):c.1627-63T>C - GPHN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1749-152G>T likely benign r.(=) p.(=) g.67609927G>T - GPHN(NM_020806.4):c.1749-152G>T - GPHN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1749-6T>C likely benign r.(=) p.(=) g.67610073T>C - GPHN(NM_020806.4):c.1749-6T>C - GPHN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1797T>C likely benign r.(?) p.(=) g.67610127T>C - GPHN(NM_020806.4):c.1797T>C (p.D599=) - GPHN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.1910+108C>T benign r.(=) p.(=) g.67626313C>T - GPHN(NM_020806.4):c.1910+108C>T - GPHN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1910+118del likely benign r.(=) p.(=) g.67626323del - GPHN(NM_020806.4):c.1910+118delA - GPHN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1971A>C likely benign r.(?) p.(=) g.67631939A>C - GPHN(NM_020806.4):c.1971A>C (p.L657=) - GPHN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1976-143G>A benign r.(=) p.(=) g.67635507G>A - GPHN(NM_020806.4):c.1976-143G>A - GPHN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2079+1G>A pathogenic r.spl? p.? g.67635754G>A - GPHN(NM_020806.4):c.2079+1G>A - GPHN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2176+9T>C benign r.(=) p.(=) g.67646400T>C - GPHN(NM_020806.4):c.2176+9T>C - GPHN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*427C>T benign r.(=) p.(=) g.67648081C>T - GPHN(NM_020806.4):c.*427C>T - GPHN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*760A>G likely benign r.(=) p.(=) g.67648414A>G - GPHN(NM_020806.4):c.*760A>G - GPHN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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